A large proportion of patients diagnosed with Bohring-Opitz Syndrome have a mutation in the ASXL1 gene. This case is different. Although the three-year-old girl from Malaysia showed different characteristics or Bohring-Opitz Syndrome, genetic analysis showed a 46xx – Bohring Opitz Syndrome overlapped with C syndrome.

» Read here the Case Report: Bohring-Opitz Syndrome – a case of rare genetic disorder by Nithiya Visayaragawan, Narentharen Selvarajah, Hema Apparau, Valuyeetham Kamaru Ambu, of the Tuanku Ja’afar Hospital, Seremban.